A20D (p.Ala20Asp) variant of C2CD2L (O14523)
A20D (p.Ala20Asp) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 11-119107800-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 25.80
- PolyPhen-2 0.67
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available